MCID: AMY040
MIFTS: 30

Amyotrophic Lateral Sclerosis 10, with or Without Ftd malady

Genetic diseases, Rare diseases, Mental diseases categories

Aliases & Classifications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Amyotrophic Lateral Sclerosis 10, with or Without Ftd, Aliases & Descriptions:

Name: Amyotrophic Lateral Sclerosis 10, with or Without Ftd 45 10
Amyotrophic Lateral Sclerosis 10 9 41 60
Amyotrophic Lateral Sclerosis 10, with 9 22
Amyotrophic Lateral Sclerosis Type 10 9 41
Als10 9 41
 
Amyotrophic Lateral Sclerosis 10 with or Without Frontotemporal Dementia 45
Tardbp-Related Frontotemporal Lobar Degeneration with Tdp43 Inclusions 9
Frontotemporal Lobar Degeneration, Tardbp-Related 45
Without Frontotemporal Dementia 9


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases
Anatomical: Mental diseases


External Ids:

OMIM45 612069
Disease Ontology9 DOID:0060201

Summaries for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Disease Ontology:9 A type of als caused by mutation located in tardbp gene located in chromosome 1.

MalaCards based summary: Amyotrophic Lateral Sclerosis 10, with or Without Ftd, also known as amyotrophic lateral sclerosis 10, is related to amyotrophic lateral sclerosis 14, with or without frontotemporal dementia and amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal dementia, and has symptoms including autosomal dominant inheritance, emotional lability and stereotypic behavior. An important gene associated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd is TARDBP (TAR DNA binding protein). Affiliated tissues include tardbp gene.

Description from OMIM:45 612069

Related Diseases for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Graphical network of diseases related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:



Diseases related to amyotrophic lateral sclerosis 10, with or without ftd

Symptoms for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Symptoms by clinical synopsis from OMIM:

612069

Clinical features from OMIM:

612069

HPO human phenotypes related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

(show all 12)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 emotional lability HP:0000712
3 stereotypic behavior HP:0000733
4 disinhibition HP:0000734
5 apathy HP:0000741
6 spasticity HP:0001257
7 dysarthria HP:0001260
8 dysphagia HP:0002015
9 respiratory insufficiency due to muscle weakness HP:0002747
10 amyotrophy HP:0003202
11 babinski sign HP:0003487
12 rapidly progressive HP:0003678

Drugs & Therapeutics for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Drug clinical trials:

Search ClinicalTrials for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Search NIH Clinical Center for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

Genetic Tests for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Genetic tests related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

id Genetic test Affiliating Genes
1 Amyotrophic Lateral Sclerosis Type 1022

Anatomical Context for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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FMA organs/tissues related to Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

14
Tardbp gene

Animal Models for Amyotrophic Lateral Sclerosis 10, with or Without Ftd or affiliated genes

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Publications for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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UniProtKB/Swiss-Prot genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

62 (show all 25)
id Symbol AA change Variation ID SNP ID
1TARDBPp.Asp169GlyVAR_045657rs80356717
2TARDBPp.Gly287SerVAR_045658rs80356719
3TARDBPp.Gly290AlaVAR_045659rs121908395
4TARDBPp.Gly294AlaVAR_045660rs80356721
5TARDBPp.Gly298SerVAR_045661rs4884357
6TARDBPp.Ala315ThrVAR_045662rs80356726
7TARDBPp.Gln331LysVAR_045663rs80356727
8TARDBPp.Met337ValVAR_045664rs80356730
9TARDBPp.Gly348CysVAR_045665rs80356733
10TARDBPp.Arg361SerVAR_045666rs80356735
11TARDBPp.Ala382ThrVAR_045667rs11689432
12TARDBPp.Asn390AspVAR_045668rs80356741
13TARDBPp.Asn390SerVAR_045669rs80356742
14TARDBPp.Asn267SerVAR_058611rs80356718
15TARDBPp.Gly294ValVAR_058612
16TARDBPp.Gly295ArgVAR_058613rs80356723
17TARDBPp.Gly295SerVAR_058614rs80356723
18TARDBPp.Ser332AsnVAR_058615rs80356728
19TARDBPp.Gly335AspVAR_058616rs80356729
20TARDBPp.Ser379CysVAR_058617rs80356739
21TARDBPp.Ser379ProVAR_058618rs80356738
22TARDBPp.Ser393LeuVAR_058619rs80356743
23TARDBPp.Gln343ArgVAR_062767rs80356731
24TARDBPp.Gly357ArgVAR_067499
25TARDBPp.Arg361ThrVAR_067500

Clinvar genetic disease variations for Amyotrophic Lateral Sclerosis 10, with or Without Ftd:

6 (show all 33)
id Gene Variation Type Significance SNP ID Assembly Location
1TARDBPNM_007375.3(TARDBP): c.*83T> Csingle nucleotide variantPathogenicrs80356744GRCh37Chr 1, 11082794: 11082794
2TARDBPNM_007375.3(TARDBP): c.1004G> A (p.Gly335Asp)single nucleotide variantPathogenicrs80356729GRCh37Chr 1, 11082470: 11082470
3TARDBPNM_007375.3(TARDBP): c.1035C> A (p.Asn345Lys)single nucleotide variantPathogenicrs80356732GRCh37Chr 1, 11082501: 11082501
4TARDBPNM_007375.3(TARDBP): c.1055A> G (p.Asn352Ser)single nucleotide variantPathogenicrs80356734GRCh37Chr 1, 11082521: 11082521
5TARDBPNM_007375.3(TARDBP): c.1083G> T (p.Arg361Ser)single nucleotide variantPathogenicrs80356735GRCh37Chr 1, 11082549: 11082549
6TARDBPNM_007375.3(TARDBP): c.1097C> G (p.Ala366Gly)single nucleotide variantPathogenicrs80356736GRCh37Chr 1, 11082563: 11082563
7TARDBPNM_007375.3(TARDBP): c.1121dupA (p.Tyr374Terfs)duplicationPathogenicrs80356737GRCh37Chr 1, 11082587: 11082587
8TARDBPNM_007375.3(TARDBP): c.1135T> C (p.Ser379Pro)single nucleotide variantPathogenicrs80356738GRCh37Chr 1, 11082601: 11082601
9TARDBPNM_007375.3(TARDBP): c.1136C> G (p.Ser379Cys)single nucleotide variantPathogenicrs80356739GRCh37Chr 1, 11082602: 11082602
10TARDBPNM_007375.3(TARDBP): c.1144G> A (p.Ala382Thr)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
11TARDBPNM_007375.3(TARDBP): c.1144G> C (p.Ala382Pro)single nucleotide variantPathogenicrs367543041GRCh37Chr 1, 11082610: 11082610
12TARDBPNM_007375.3(TARDBP): c.1147A> G (p.Ile383Val)single nucleotide variantPathogenicrs80356740GRCh37Chr 1, 11082613: 11082613
13TARDBPNM_007375.3(TARDBP): c.1168A> G (p.Asn390Asp)single nucleotide variantPathogenicrs80356741GRCh37Chr 1, 11082634: 11082634
14TARDBPNM_007375.3(TARDBP): c.1169A> G (p.Asn390Ser)single nucleotide variantPathogenicrs80356742GRCh37Chr 1, 11082635: 11082635
15TARDBPNM_007375.3(TARDBP): c.1178C> T (p.Ser393Leu)single nucleotide variantPathogenicrs80356743GRCh37Chr 1, 11082644: 11082644
16TARDBPNM_007375.3(TARDBP): c.800A> G (p.Asn267Ser)single nucleotide variantPathogenicrs80356718GRCh37Chr 1, 11082266: 11082266
17TARDBPNM_007375.3(TARDBP): c.859G> A (p.Gly287Ser)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
18TARDBPNM_007375.3(TARDBP): c.881G> T (p.Gly294Val)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
19TARDBPNM_007375.3(TARDBP): c.883G> A (p.Gly295Ser)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
20TARDBPNM_007375.3(TARDBP): c.883G> C (p.Gly295Arg)single nucleotide variantPathogenicrs80356723GRCh37Chr 1, 11082349: 11082349
21TARDBPNM_007375.3(TARDBP): c.931A> G (p.Met311Val)single nucleotide variantPathogenicrs80356725GRCh37Chr 1, 11082397: 11082397
22TARDBPNM_007375.3(TARDBP): c.995G> A (p.Ser332Asn)single nucleotide variantPathogenicrs80356728GRCh37Chr 1, 11082461: 11082461
23TARDBPNM_007375.3(TARDBP): c.859G> C (p.Gly287Arg)single nucleotide variantPathogenicrs80356719GRCh37Chr 1, 11082325: 11082325
24TARDBPNM_007375.3(TARDBP): c.1009A> G (p.Met337Val)single nucleotide variantPathogenicrs80356730GRCh37Chr 1, 11082475: 11082475
25TARDBPNM_007375.3(TARDBP): c.991C> A (p.Gln331Lys)single nucleotide variantPathogenicrs80356727GRCh37Chr 1, 11082457: 11082457
26TARDBPNM_007375.3(TARDBP): c.881G> C (p.Gly294Ala)single nucleotide variantPathogenicrs80356721GRCh37Chr 1, 11082347: 11082347
27TARDBPNM_007375.3(TARDBP): c.869G> C (p.Gly290Ala)single nucleotide variantPathogenicrs121908395GRCh37Chr 1, 11082335: 11082335
28TARDBPNM_007375.3(TARDBP): c.892G> A (p.Gly298Ser)single nucleotide variantPathogenicrs4884357GRCh37Chr 1, 11082358: 11082358
29TARDBPNM_007375.3(TARDBP): c.506A> G (p.Asp169Gly)single nucleotide variantPathogenicrs80356717GRCh37Chr 1, 11078893: 11078893
30TARDBPNM_007375.3(TARDBP): c.1042G> T (p.Gly348Cys)single nucleotide variantPathogenicrs80356733GRCh37Chr 1, 11082508: 11082508
31TARDBPNM_007375.3(TARDBP): c.1028A> G (p.Gln343Arg)single nucleotide variantPathogenicrs80356731GRCh37Chr 1, 11082494: 11082494
32TARDBPNM_007375.3(TARDBP): c.943G> A (p.Ala315Thr)single nucleotide variantPathogenicrs80356726GRCh37Chr 1, 11082409: 11082409
33TARDBPNM_007375.3(TARDBP): c.*697G> Asingle nucleotide variantPathogenicrs387906334GRCh37Chr 1, 11083408: 11083408

Expression for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Search GEO for disease gene expression data for Amyotrophic Lateral Sclerosis 10, with or Without Ftd.

Pathways for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Compounds for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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GO Terms for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Products for genes affiliated with Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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Sources for Amyotrophic Lateral Sclerosis 10, with or Without Ftd

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet